Linked Data
ClinVar Variation Id:
1397968
ClinVar RCV Id:
RCV001912695
dbSNP Id:
rs750376002
ExAC:
7:92147342 C / G
gnomAD v2:
7-92147342-C-G
gnomAD v4:
7-92518028-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92518028C>G , CM000669.2:g.92518028C>G | GRCh38 |
| NC_000007.13:g.92147342C>G , CM000669.1:g.92147342C>G | GRCh37 |
| NC_000007.12:g.91985278C>G | NCBI36 |
| NG_008341.1:g.15504G>C | |
| NG_008341.2:g.15504G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.487G>C MANE Select | ENSP00000248633.4:p.Ala163Pro | |
| ENST00000248633.8:c.487G>C | ENSP00000248633.4:p.Ala163Pro | |
| ENST00000428214.5:c.487G>C | ENSP00000394413.1:p.Ala163Pro | |
| ENST00000438045.5:c.274-4061G>C | ENSP00000410438.1:n.274-4061G>C | |
| ENST00000484913.5:n.526G>C | ||
| NM_000466.2:c.487G>C | NP_000457.1:p.Ala163Pro | |
| NM_001282677.1:c.487G>C | NP_001269606.1:p.Ala163Pro | |
| NM_001282678.1:c.-138G>C | NP_001269607.1:n.-138G>C | |
| XR_242246.3:n.583G>C | ||
| XR_242246.5:n.534G>C | ||
| NM_000466.3:c.487G>C MANE Select | NP_000457.1:p.Ala163Pro | |
| NM_001282677.2:c.487G>C | NP_001269606.1:p.Ala163Pro | |
| NM_001282678.2:c.-138G>C | NP_001269607.1:n.-138G>C |